シャルコー・マリー・トゥース病

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_170707.4(LMNA):c.476del (p.Glu159fs)	LMNA	Likely pathogenic	1	156100527	156100527	GA	G	criteria provided, single submitter	ClinGen:CA10576366
single nucleotide variant	NM_170707.4(LMNA):c.1110C>G (p.Asp370Glu)	LMNA	Likely pathogenic	1	156105865	156105865	C	G	criteria provided, single submitter	ClinGen:CA10576367
single nucleotide variant	NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)	IGHMBP2	Pathogenic	11	68673577	68673577	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153192
single nucleotide variant	NM_000530.8(MPZ):c.149G>T (p.Cys50Phe)	MPZ	Pathogenic	1	161277133	161277133	C	A	criteria provided, single submitter	ClinGen:CA10577216
Deletion	NM_001005373.4(LRSAM1):c.2003_2015del (p.Leu668fs)	LRSAM1	Likely pathogenic	9	130263377	130263389	AGCTGGAGGTGCAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577373
single nucleotide variant	NM_001005373.4(LRSAM1):c.2011C>T (p.Gln671Ter)	LRSAM1	Likely pathogenic	9	130263387	130263387	C	T	criteria provided, single submitter	ClinGen:CA10577374
single nucleotide variant	NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)	IGHMBP2	Pathogenic/Likely pathogenic	11	68701332	68701332	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153662
single nucleotide variant	NM_030962.4(SBF2):c.4257+1G>A	SBF2	Likely pathogenic	11	9830447	9830447	C	T	criteria provided, single submitter	ClinGen:CA10577431
single nucleotide variant	NM_021625.5(TRPV4):c.290C>G (p.Pro97Arg)	TRPV4	Likely pathogenic	12	110252312	110252312	G	C	criteria provided, single submitter	ClinGen:CA10577435,UniProtKB:Q9HBA0#VAR_067989
single nucleotide variant	NM_000304.4(PMP22):c.447C>A (p.Ser149Arg)	PMP22	Pathogenic	17	15134270	15134270	G	T	criteria provided, single submitter	ClinGen:CA10577555,UniProtKB:Q01453#VAR_029970